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Clinical Trial Summary

The study aim is:

1. To examine aortic tissue by light microscopy

2. To examine aortic tissue by electron microscopy

3. To study changes in the epigenome and transcriptome of the X chromosome specific to aortic tissue.

4. To examine aortic tissue using biochemistry including proteomics.

5. To establish the karyotype of fibroblasts with standard chromosome examination on 10 meta-phases as well as by fluorescent in situ hybridization (FISH) with probes covering the X and Y chromosome. Using the latter 200 meta-phases will be examined.

30 controls who did not die from aortic dissection or dilation will be recruited from The Department of Forensic Medicine at Aarhus University Hospital.

The investigators will subject samples of aortic tissue from women undergoing prophylactic aortic surgery due to either Marfan syndrome or bicuspid aortic valve to the same panel of examinations (except karyotyping). Lastly the investigators will compare the results from the three groups (Turner syndrome, Marfan syndrome and Bicuspid aortic valve).


Clinical Trial Description

Turner syndrome is a congenital complete or partial lack of one of the female sex chromosomes affecting 1 of 2000 live born girls. The syndrome is characterized by an increased prevalence of ischemic heart disease, aortic dilation and dissection, hypertension, stroke and autoimmune diseases in general. ;


Study Design

Observational Model: Cohort, Time Perspective: Cross-Sectional


Related Conditions & MeSH terms


NCT number NCT01760668
Study type Observational
Source University of Aarhus
Contact
Status Completed
Phase N/A
Start date February 2013
Completion date October 2015

See also
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Completed NCT01518036 - Use of Somatropin in Turner Syndrome Phase 3
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Completed NCT00877942 - Sex Differences in Early Brain Development; Brain Development in Turner Syndrome N/A
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Terminated NCT00419107 - Beta Cell Function in Women With Turner Syndrome N/A
Active, not recruiting NCT00625001 - Long Term Follow-up of Bone Mineral Density in Hormone Treated Turner Syndrome N/A
Completed NCT00029159 - The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Phase 3
Completed NCT01518062 - Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Phase 4
Completed NCT00471731 - Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure N/A
Completed NCT00256126 - Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Phase 4
Completed NCT03181230 - Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome